Incidental Mutation 'R7879:Clstn2'
ID |
608648 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clstn2
|
Ensembl Gene |
ENSMUSG00000032452 |
Gene Name |
calsyntenin 2 |
Synonyms |
2900042C18Rik, Cst-2, CS2, CSTN2 |
MMRRC Submission |
045931-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7879 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
97326448-97915234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97351817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 536
(V536A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035027]
[ENSMUST00000162295]
|
AlphaFold |
Q9ER65 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035027
AA Change: V536A
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035027 Gene: ENSMUSG00000032452 AA Change: V536A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CA
|
67 |
160 |
2e-10 |
SMART |
CA
|
183 |
261 |
1.18e-3 |
SMART |
SCOP:d1a8d_1
|
358 |
538 |
5e-21 |
SMART |
Blast:LamG
|
380 |
529 |
3e-41 |
BLAST |
transmembrane domain
|
835 |
857 |
N/A |
INTRINSIC |
low complexity region
|
901 |
935 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162295
AA Change: V536A
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124081 Gene: ENSMUSG00000032452 AA Change: V536A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CA
|
67 |
160 |
2e-10 |
SMART |
CA
|
183 |
261 |
1.18e-3 |
SMART |
Pfam:Laminin_G_3
|
356 |
533 |
1.4e-9 |
PFAM |
transmembrane domain
|
835 |
857 |
N/A |
INTRINSIC |
low complexity region
|
901 |
935 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous KO mice display deficiency in spatial learning and memory in Morris water and Barnes maze tasks and increased locomotor activity in open field test. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449I24Rik |
T |
C |
5: 146,439,662 (GRCm39) |
I81T |
probably benign |
Het |
Acnat2 |
G |
A |
4: 49,383,299 (GRCm39) |
P85S |
probably damaging |
Het |
Akr1c19 |
G |
A |
13: 4,286,223 (GRCm39) |
V74M |
probably damaging |
Het |
Alb |
C |
A |
5: 90,620,507 (GRCm39) |
T539K |
probably benign |
Het |
B4galnt2 |
G |
A |
11: 95,760,223 (GRCm39) |
T268I |
possibly damaging |
Het |
Bcl7b |
G |
A |
5: 135,205,986 (GRCm39) |
E58K |
possibly damaging |
Het |
Calr3 |
C |
T |
8: 73,178,487 (GRCm39) |
S372N |
unknown |
Het |
Cdcp3 |
T |
A |
7: 130,844,871 (GRCm39) |
V588E |
probably damaging |
Het |
Cdh20 |
A |
T |
1: 104,875,047 (GRCm39) |
|
probably null |
Het |
Cdh20 |
A |
C |
1: 109,976,677 (GRCm39) |
E114A |
probably benign |
Het |
Cep70 |
A |
G |
9: 99,144,686 (GRCm39) |
R74G |
possibly damaging |
Het |
Chrna6 |
A |
G |
8: 27,897,109 (GRCm39) |
F256S |
probably damaging |
Het |
Cic |
A |
G |
7: 24,984,551 (GRCm39) |
T996A |
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,441,820 (GRCm39) |
M348K |
probably benign |
Het |
Dnah11 |
A |
C |
12: 118,004,744 (GRCm39) |
D2192E |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,352,646 (GRCm39) |
I2600V |
probably benign |
Het |
Dock3 |
A |
C |
9: 106,785,700 (GRCm39) |
S185A |
probably benign |
Het |
Dock4 |
A |
T |
12: 40,780,083 (GRCm39) |
D628V |
possibly damaging |
Het |
Dzank1 |
A |
T |
2: 144,333,718 (GRCm39) |
S371T |
probably benign |
Het |
Fam83b |
A |
T |
9: 76,399,737 (GRCm39) |
N455K |
possibly damaging |
Het |
Fcrlb |
T |
C |
1: 170,736,365 (GRCm39) |
Y137C |
probably damaging |
Het |
Gtf2i |
G |
A |
5: 134,295,471 (GRCm39) |
T327M |
possibly damaging |
Het |
Hspa5 |
T |
A |
2: 34,665,941 (GRCm39) |
M595K |
probably benign |
Het |
Htt |
C |
T |
5: 34,981,252 (GRCm39) |
A875V |
probably benign |
Het |
Hvcn1 |
G |
A |
5: 122,376,701 (GRCm39) |
|
probably null |
Het |
Igsf10 |
A |
G |
3: 59,238,145 (GRCm39) |
S679P |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,751,265 (GRCm39) |
H1285R |
probably benign |
Het |
Kcnq4 |
T |
C |
4: 120,559,632 (GRCm39) |
T523A |
probably benign |
Het |
Kif6 |
T |
A |
17: 50,139,214 (GRCm39) |
I562N |
probably benign |
Het |
Klhl9 |
C |
A |
4: 88,638,575 (GRCm39) |
W555C |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,856,624 (GRCm39) |
T423A |
probably benign |
Het |
Mapk10 |
C |
T |
5: 103,111,362 (GRCm39) |
V391I |
probably benign |
Het |
Noa1 |
T |
C |
5: 77,445,044 (GRCm39) |
M592V |
probably benign |
Het |
Npy5r |
A |
G |
8: 67,133,968 (GRCm39) |
M275T |
possibly damaging |
Het |
Nuak2 |
T |
A |
1: 132,259,695 (GRCm39) |
V499E |
probably benign |
Het |
Or4x6 |
A |
T |
2: 89,949,185 (GRCm39) |
C252* |
probably null |
Het |
Or6c213 |
T |
C |
10: 129,574,559 (GRCm39) |
I76V |
probably benign |
Het |
Otogl |
T |
C |
10: 107,612,970 (GRCm39) |
E2052G |
probably benign |
Het |
Pard3b |
T |
A |
1: 62,198,670 (GRCm39) |
C253S |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,727,228 (GRCm39) |
S2029P |
unknown |
Het |
Plekhg3 |
A |
G |
12: 76,612,343 (GRCm39) |
I401M |
probably damaging |
Het |
Polg |
A |
T |
7: 79,100,392 (GRCm39) |
C1140S |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,962,817 (GRCm39) |
L62H |
probably damaging |
Het |
Psmf1 |
T |
A |
2: 151,576,163 (GRCm39) |
E115V |
probably benign |
Het |
Ptpn9 |
A |
T |
9: 56,964,010 (GRCm39) |
N381I |
possibly damaging |
Het |
Pzp |
A |
G |
6: 128,465,979 (GRCm39) |
S1234P |
probably benign |
Het |
Qrich1 |
A |
G |
9: 108,436,485 (GRCm39) |
T728A |
possibly damaging |
Het |
Ralgps2 |
C |
A |
1: 156,656,636 (GRCm39) |
A323S |
probably benign |
Het |
Rimbp3 |
T |
C |
16: 17,028,910 (GRCm39) |
V778A |
possibly damaging |
Het |
Scn1a |
A |
T |
2: 66,116,349 (GRCm39) |
L430* |
probably null |
Het |
Sema7a |
A |
T |
9: 57,862,363 (GRCm39) |
I189F |
probably damaging |
Het |
Slc22a8 |
T |
C |
19: 8,571,386 (GRCm39) |
I39T |
probably benign |
Het |
Stap2 |
T |
C |
17: 56,309,023 (GRCm39) |
T115A |
probably benign |
Het |
Stmn4 |
A |
G |
14: 66,595,388 (GRCm39) |
I138V |
probably benign |
Het |
Suds3 |
C |
T |
5: 117,236,335 (GRCm39) |
|
probably null |
Het |
Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
Tet1 |
A |
C |
10: 62,714,825 (GRCm39) |
D323E |
probably benign |
Het |
Tia1 |
A |
G |
6: 86,401,347 (GRCm39) |
D140G |
probably damaging |
Het |
Trio |
C |
T |
15: 27,852,010 (GRCm39) |
R827H |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,625,397 (GRCm39) |
|
probably null |
Het |
Unc80 |
T |
C |
1: 66,549,866 (GRCm39) |
V708A |
probably benign |
Het |
Vmn1r194 |
A |
T |
13: 22,428,772 (GRCm39) |
T130S |
probably benign |
Het |
Wfikkn2 |
A |
G |
11: 94,129,755 (GRCm39) |
C129R |
probably damaging |
Het |
Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
|
Other mutations in Clstn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00562:Clstn2
|
APN |
9 |
97,464,505 (GRCm39) |
splice site |
probably benign |
|
IGL00563:Clstn2
|
APN |
9 |
97,464,505 (GRCm39) |
splice site |
probably benign |
|
IGL00733:Clstn2
|
APN |
9 |
97,365,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01303:Clstn2
|
APN |
9 |
97,365,128 (GRCm39) |
nonsense |
probably null |
|
IGL01935:Clstn2
|
APN |
9 |
97,345,521 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02157:Clstn2
|
APN |
9 |
97,423,928 (GRCm39) |
missense |
probably benign |
|
IGL02974:Clstn2
|
APN |
9 |
97,414,760 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03164:Clstn2
|
APN |
9 |
97,681,462 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL03298:Clstn2
|
APN |
9 |
97,338,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R0653:Clstn2
|
UTSW |
9 |
97,340,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R0845:Clstn2
|
UTSW |
9 |
97,452,681 (GRCm39) |
missense |
probably benign |
0.39 |
R0992:Clstn2
|
UTSW |
9 |
97,327,765 (GRCm39) |
missense |
probably benign |
0.00 |
R1105:Clstn2
|
UTSW |
9 |
97,465,552 (GRCm39) |
splice site |
probably null |
|
R1112:Clstn2
|
UTSW |
9 |
97,340,281 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1264:Clstn2
|
UTSW |
9 |
97,339,662 (GRCm39) |
missense |
probably benign |
0.28 |
R1275:Clstn2
|
UTSW |
9 |
97,339,483 (GRCm39) |
missense |
probably benign |
0.00 |
R1329:Clstn2
|
UTSW |
9 |
97,340,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R1396:Clstn2
|
UTSW |
9 |
97,343,446 (GRCm39) |
missense |
probably benign |
0.02 |
R1556:Clstn2
|
UTSW |
9 |
97,338,558 (GRCm39) |
missense |
probably benign |
0.41 |
R1703:Clstn2
|
UTSW |
9 |
97,340,290 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1837:Clstn2
|
UTSW |
9 |
97,465,593 (GRCm39) |
missense |
probably benign |
0.00 |
R2911:Clstn2
|
UTSW |
9 |
97,414,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R3434:Clstn2
|
UTSW |
9 |
97,336,768 (GRCm39) |
missense |
probably benign |
0.17 |
R3771:Clstn2
|
UTSW |
9 |
97,464,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R3772:Clstn2
|
UTSW |
9 |
97,464,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R3854:Clstn2
|
UTSW |
9 |
97,345,648 (GRCm39) |
nonsense |
probably null |
|
R4049:Clstn2
|
UTSW |
9 |
97,339,613 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4334:Clstn2
|
UTSW |
9 |
97,345,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R4705:Clstn2
|
UTSW |
9 |
97,345,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4755:Clstn2
|
UTSW |
9 |
97,327,726 (GRCm39) |
missense |
probably benign |
0.01 |
R4884:Clstn2
|
UTSW |
9 |
97,681,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R5017:Clstn2
|
UTSW |
9 |
97,365,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R5076:Clstn2
|
UTSW |
9 |
97,365,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R5122:Clstn2
|
UTSW |
9 |
97,343,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R5155:Clstn2
|
UTSW |
9 |
97,338,484 (GRCm39) |
missense |
probably benign |
0.02 |
R5560:Clstn2
|
UTSW |
9 |
97,351,872 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6009:Clstn2
|
UTSW |
9 |
97,338,579 (GRCm39) |
missense |
probably benign |
0.05 |
R6011:Clstn2
|
UTSW |
9 |
97,338,579 (GRCm39) |
missense |
probably benign |
0.05 |
R6029:Clstn2
|
UTSW |
9 |
97,338,634 (GRCm39) |
missense |
probably benign |
0.00 |
R6093:Clstn2
|
UTSW |
9 |
97,340,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R6284:Clstn2
|
UTSW |
9 |
97,336,727 (GRCm39) |
missense |
probably benign |
|
R6676:Clstn2
|
UTSW |
9 |
97,343,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R6902:Clstn2
|
UTSW |
9 |
97,351,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R6946:Clstn2
|
UTSW |
9 |
97,351,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R6966:Clstn2
|
UTSW |
9 |
97,408,459 (GRCm39) |
nonsense |
probably null |
|
R7329:Clstn2
|
UTSW |
9 |
97,343,422 (GRCm39) |
missense |
probably benign |
0.00 |
R7330:Clstn2
|
UTSW |
9 |
97,343,422 (GRCm39) |
missense |
probably benign |
0.00 |
R7382:Clstn2
|
UTSW |
9 |
97,681,451 (GRCm39) |
nonsense |
probably null |
|
R7410:Clstn2
|
UTSW |
9 |
97,423,920 (GRCm39) |
missense |
probably benign |
0.06 |
R7549:Clstn2
|
UTSW |
9 |
97,464,597 (GRCm39) |
missense |
probably benign |
0.01 |
R8070:Clstn2
|
UTSW |
9 |
97,681,523 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8193:Clstn2
|
UTSW |
9 |
97,465,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R8422:Clstn2
|
UTSW |
9 |
97,340,239 (GRCm39) |
missense |
probably benign |
0.39 |
R9190:Clstn2
|
UTSW |
9 |
97,414,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R9221:Clstn2
|
UTSW |
9 |
97,343,395 (GRCm39) |
missense |
probably benign |
0.00 |
R9305:Clstn2
|
UTSW |
9 |
97,343,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R9347:Clstn2
|
UTSW |
9 |
97,464,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R9520:Clstn2
|
UTSW |
9 |
97,414,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R9751:Clstn2
|
UTSW |
9 |
97,339,703 (GRCm39) |
missense |
probably damaging |
0.98 |
X0027:Clstn2
|
UTSW |
9 |
97,408,452 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Clstn2
|
UTSW |
9 |
97,343,409 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCAATTCTGTGAGGCTTCTC -3'
(R):5'- GGCTGCAATATGAGCATTTGG -3'
Sequencing Primer
(F):5'- TGAGGCTTCTCTGGGAATAAC -3'
(R):5'- TGAGCATTTGGAACCATATGTG -3'
|
Posted On |
2019-12-20 |